Étude des outils biotechnologiques dans la prise en charge de l’hémophilie

Abstract

Hemostasis and hemophilia are two related but distinct concepts in blood coagulation. Hemostasis is the natural process that stops bleeding, whereas hemophilia is a genetic disorder that prevents blood from clotting properly. Hemophilia is characterized by a deficiency in coagulation factors. The two main types are factor VIII deficiency (hemophilia A) and factor IX deficiency (hemophilia B). These conditions lead to frequent, spontaneous, prolonged, and heavy bleeding episodes. Hemophilia A and B are X-linked recessive genetic disorders, occurring almost exclusively in males. Their transmission results in equally significant disorders in offspring. Diagnosis of hemophilia relies on blood tests to evaluate coagulation factors, particularly factors VIII and IX, using assays such as prothrombin time (PT), activated partial thromboplastin time (aPTT), and corrected aPTT (classical methods), as well as new-generation diagnostics like the aptamer-based SPRi biochip. Treatment aims to replace the missing coagulation factor through regular injections of factor concentrates (replacement therapy), or through non-specific treatments such as monoclonal antibodies.